======= WHSC1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NSD2
  * **<color #00a2e8>Official Name</color>**: nuclear receptor binding SET domain protein 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7468|7468]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O96028|O96028]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=WHSC1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20WHSC1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/602952|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform 2 may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment. {ECO:0000269|PubMed:11152655, ECO:0000269|PubMed:16115125, ECO:0000269|PubMed:18172012}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|HMG box|
|PHD|
|PWWP|
|SET|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|atrial septum secundum morphogenesis|
|septum secundum development|
|positive regulation of isotype switching to IgA isotypes|
|histone methyltransferase activity (H4-K20 specific)|
|atrial septum primum morphogenesis|
|regulation of isotype switching to IgA isotypes|
|septum primum development|
|histone H3-K36 methylation|
|histone methyltransferase activity (H3-K36 specific)|
|histone H4-K20 methylation|
|membranous septum morphogenesis|
|atrial septum morphogenesis|
|atrial septum development|
|regulation of double-strand break repair via nonhomologous end joining|
|positive regulation of isotype switching|
|cardiac atrium morphogenesis|
|regulation of isotype switching|
|cardiac atrium development|
|positive regulation of immunoglobulin mediated immune response|
|positive regulation of B cell mediated immunity|
|positive regulation of DNA recombination|
|ventricular septum morphogenesis|
|positive regulation of immunoglobulin production|
|regulation of immunoglobulin mediated immune response|
|regulation of B cell mediated immunity|
|double-strand break repair via nonhomologous end joining|
|non-recombinational repair|
|regulation of immunoglobulin production|
|histone lysine methylation|
|ventricular septum development|
|cardiac septum morphogenesis|
|regulation of double-strand break repair|
|peptidyl-lysine methylation|
|histone methylation|
|positive regulation of production of molecular mediator of immune response|
|positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains|
|regulation of DNA recombination|
|positive regulation of adaptive immune response|
|positive regulation of lymphocyte mediated immunity|
|cardiac septum development|
|chromatin|
|regulation of DNA repair|
|cardiac chamber morphogenesis|
|cardiac ventricle development|
|positive regulation of leukocyte mediated immunity|
|protein alkylation|
|protein methylation|
|regulation of production of molecular mediator of immune response|
|regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains|
|regulation of lymphocyte mediated immunity|
|regulation of adaptive immune response|
|positive regulation of B cell activation|
|cardiac chamber development|
|double-strand break repair|
|positive regulation of DNA metabolic process|
|bone development|
|regulation of leukocyte mediated immunity|
|regulation of B cell activation|
|regulation of response to DNA damage stimulus|
|positive regulation of immune effector process|
|heart morphogenesis|
|macromolecule methylation|
|methylation|
|peptidyl-lysine modification|
|regulation of DNA metabolic process|
|positive regulation of lymphocyte activation|
|histone modification|
|covalent chromatin modification|
|chromatin binding|
|positive regulation of leukocyte activation|
|positive regulation of cell activation|
|sequence-specific DNA binding|
|regulation of immune effector process|
|skeletal system development|
|DNA repair|
|regulation of lymphocyte activation|
|heart development|
|regulation of leukocyte activation|
|regulation of cell activation|
|chromatin organization|
|regulation of cellular response to stress|
|DNA metabolic process|
|regulation of establishment of protein localization|
|cellular response to DNA damage stimulus|
|negative regulation of transcription by RNA polymerase II|
|positive regulation of immune response|
|circulatory system development|
|peptidyl-amino acid modification|
|animal organ morphogenesis|
|regulation of protein localization|
|chromosome organization|
|positive regulation of immune system process|
|regulation of immune response|
|negative regulation of transcription, DNA-templated|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|negative regulation of RNA metabolic process|
|positive regulation of developmental process|
|negative regulation of cellular macromolecule biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|negative regulation of macromolecule biosynthetic process|
|regulation of response to stress|
|negative regulation of cellular biosynthetic process|
|negative regulation of biosynthetic process|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|regulation of immune system process|
|cellular response to stress|
|negative regulation of gene expression|
|positive regulation of multicellular organismal process|
|positive regulation of nucleobase-containing compound metabolic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp379|MSC2530818 10μM R07 exp379]]|-2.1|
|[[:results:exp12|Chloramphenicol 2μM R00 exp12]]|-1.86|
|[[:results:exp68|Clomiphene 4.4μM R02 exp68]]|-1.84|
|[[:results:exp312|2-Methoxyestradiol 0.55 to 1μM on day4 R07 exp312]]|-1.76|
|[[:results:exp247|UM0130462 0.025 to 0.035μM day4 R05 exp247]]|-1.75|
|[[:results:exp49|NFN1 0.1μM R01 exp49]]|-1.7|
|[[:results:exp470|Chloroquine 32μM R08 exp470]]|1.71|
|[[:results:exp429|Rapamycin 0.001μM R08 exp429]]|1.81|
|[[:results:exp29|Rapamycin 1μM R00 exp29]]|1.88|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/25|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|1/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 9704
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 8.79 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='WHSC1 Expression in NALM6 Cells: 8.79'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>